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Aliases for GPATCH1 Gene

Aliases for GPATCH1 Gene

  • G-Patch Domain Containing 1 2 3 5
  • Evolutionarily Conserved G-Patch Domain-Containing Protein 3 4
  • Evolutionarily Conserved G Patch Domain Containing 2 3
  • GPATC1 3 4
  • ECGP 3 4
  • G Patch Domain-Containing Protein 1 3

External Ids for GPATCH1 Gene

Previous HGNC Symbols for GPATCH1 Gene

  • GPATC1

Previous GeneCards Identifiers for GPATCH1 Gene

  • GC19P038266
  • GC19P033571
  • GC19P030074

Summaries for GPATCH1 Gene

GeneCards Summary for GPATCH1 Gene

GPATCH1 (G-Patch Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

Additional gene information for GPATCH1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPATCH1 Gene

Genomics for GPATCH1 Gene

GeneHancer (GH) Regulatory Elements for GPATCH1 Gene

Promoters and enhancers for GPATCH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I033080 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 575.9 +0.5 493 1.7 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 E2F8 ZNF416 ZNF207 GPATCH1 ZNF507 PDCD5 FAAP24 RHPN2 CEP89 WDR88
GH19I033370 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 149.9 +293.8 293819 8.7 FEZF1 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC ZFP41 SSRP1 ZNF610 CEBPG GPATCH1 LSM14A CEP89 KIAA0355 FAAP24 PDCD5 ENSG00000267219 WDR88 ANKRD27
GH19I033819 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 188.8 +739.8 739763 2.8 ZFP64 ARID4B SIN3A FEZF1 ZNF213 ZNF302 ZNF416 KLF13 SP3 ZC3H11A GPATCH1 CEP89 ZNF599 LSM14A KIAA0355 ZNF181 ENSG00000267219 WTIP FAAP24 ENSG00000271049
GH19I033296 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 123.4 +220.5 220526 10.6 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF416 ZNF143 CEBPA-AS1 CEBPA ENSG00000267580 ENSG00000267727 GC19M033302 GPATCH1 ZNF507 CEP89 LSM14A KIAA0355
GH19I033273 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 161.6 +194.2 194173 3.3 CLOCK FOXA2 MLX ARID4B DMAP1 ZNF2 YY1 ZNF302 ZNF416 ZNF548 GPATCH1 ZNF507 CEP89 LSM14A KIAA0355 PDCD5 CEBPG WDR88 FAAP24 DPY19L3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GPATCH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPATCH1 gene promoter:

Genomic Locations for GPATCH1 Gene

Genomic Locations for GPATCH1 Gene
chr19:33,080,880-33,130,542
(GRCh38/hg38)
Size:
49,663 bases
Orientation:
Plus strand
chr19:33,571,786-33,621,448
(GRCh37/hg19)

Genomic View for GPATCH1 Gene

Genes around GPATCH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPATCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPATCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPATCH1 Gene

Proteins for GPATCH1 Gene

  • Protein details for GPATCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRR8-GPTC1_HUMAN
    Recommended name:
    G patch domain-containing protein 1
    Protein Accession:
    Q9BRR8
    Secondary Accessions:
    • Q8IZV6
    • Q8N3B7
    • Q9NW94

    Protein attributes for GPATCH1 Gene

    Size:
    931 amino acids
    Molecular mass:
    103345 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD39124.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GPATCH1 Gene

Post-translational modifications for GPATCH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPATCH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPATCH1 Gene

Domains & Families for GPATCH1 Gene

Protein Domains for GPATCH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GPATCH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BRR8

UniProtKB/Swiss-Prot:

GPTC1_HUMAN :
  • Belongs to the GPATCH1 family.
Family:
  • Belongs to the GPATCH1 family.
genes like me logo Genes that share domains with GPATCH1: view

Function for GPATCH1 Gene

Phenotypes From GWAS Catalog for GPATCH1 Gene

Gene Ontology (GO) - Molecular Function for GPATCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with GPATCH1: view
genes like me logo Genes that share phenotypes with GPATCH1: view

Animal Model Products

miRNA for GPATCH1 Gene

miRTarBase miRNAs that target GPATCH1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPATCH1 Gene

Localization for GPATCH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPATCH1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (1)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPATCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with GPATCH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GPATCH1 Gene

Pathways & Interactions for GPATCH1 Gene

SuperPathways for GPATCH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPATCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with GPATCH1: view

No data available for Pathways by source and SIGNOR curated interactions for GPATCH1 Gene

Drugs & Compounds for GPATCH1 Gene

No Compound Related Data Available

Transcripts for GPATCH1 Gene

Unigene Clusters for GPATCH1 Gene

G patch domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPATCH1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a ·
SP1: - -
SP2: - -
SP3:
SP4: - -
SP5:

ExUns: 20b ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for GPATCH1 Gene

GeneLoc Exon Structure for
GPATCH1
ECgene alternative splicing isoforms for
GPATCH1

Expression for GPATCH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPATCH1 Gene

Protein differential expression in normal tissues from HIPED for GPATCH1 Gene

This gene is overexpressed in Heart (27.4), Adrenal (20.2), Placenta (7.5), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GPATCH1 Gene



Protein tissue co-expression partners for GPATCH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPATCH1 Gene:

GPATCH1

SOURCE GeneReport for Unigene cluster for GPATCH1 Gene:

Hs.466436

Evidence on tissue expression from TISSUES for GPATCH1 Gene

  • Muscle(4.2)
genes like me logo Genes that share expression patterns with GPATCH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPATCH1 Gene

Orthologs for GPATCH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPATCH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPATCH1 33 34
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia GPATCH1 33 34
  • 88.7 (n)
cow
(Bos Taurus)
Mammalia GPATCH1 33 34
  • 88.39 (n)
mouse
(Mus musculus)
Mammalia Gpatch1 33 16 34
  • 83.37 (n)
rat
(Rattus norvegicus)
Mammalia Gpatch1 33
  • 82.94 (n)
oppossum
(Monodelphis domestica)
Mammalia GPATCH1 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPATCH1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPATCH1 33 34
  • 66.59 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gpatch1 33
  • 62.24 (n)
zebrafish
(Danio rerio)
Actinopterygii gpatch1 33 34
  • 58.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8833 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R07E5.1 34
  • 29 (a)
OneToOne
barley
(Hordeum vulgare)
Liliopsida Hv.9863 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.838 33
Species where no ortholog for GPATCH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPATCH1 Gene

ENSEMBL:
Gene Tree for GPATCH1 (if available)
TreeFam:
Gene Tree for GPATCH1 (if available)

Paralogs for GPATCH1 Gene

No data available for Paralogs for GPATCH1 Gene

Variants for GPATCH1 Gene

Sequence variations from dbSNP and Humsavar for GPATCH1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000066832 -- 33,125,535(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000087756 -- 33,112,115(+) G/A intron_variant
rs1000249059 -- 33,118,753(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000320774 -- 33,080,078(+) C/T upstream_transcript_variant
rs1000386355 -- 33,129,100(+) A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GPATCH1 Gene

Variant ID Type Subtype PubMed ID
esv2077920 CNV deletion 18987734
esv2666093 CNV deletion 23128226
esv2718467 CNV deletion 23290073
esv3556297 CNV deletion 23714750
esv3644181 CNV loss 21293372
nsv1121976 CNV deletion 24896259
nsv472646 CNV novel sequence insertion 20440878
nsv954628 CNV deletion 24416366

Variation tolerance for GPATCH1 Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.75; 57.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPATCH1 Gene

Human Gene Mutation Database (HGMD)
GPATCH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPATCH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPATCH1 Gene

Disorders for GPATCH1 Gene

Additional Disease Information for GPATCH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GPATCH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GPATCH1 Gene

Publications for GPATCH1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58

Products for GPATCH1 Gene

Sources for GPATCH1 Gene

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